ArticleNature communications2023
Mapping genomic regulation of kidney disease and traits through high-resolution and interpretable eQTLs.
Article in Nature communications, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 4 of them syntheses that pooled it.
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Who cites it
27 citing papers in PubMed, 4 syntheses or guidelines pooled it, 26 citations in OpenAlex.
- Genetic Evidence for the Benefits and Risks of Glucose-Lowering Drugs on Cardiovascular-Kidney-Metabolic Syndrome: A Drug-Target Mendelian Randomization Study.International journal of medical sciences · 2026 · on this mapPooled it
- Genome-wide association study of hospitalized patients and acute kidney injury.Kidney international · 2024Pooled it
- Large-scale cross-ancestry genome-wide meta-analysis of serum urate.Nature communications · 2024Pooled it
- Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome.Nature communications · 2023Pooled it
- The landscape of allele-specific expression in human kidneys.Science advances · 2026Article
- Article
- Partitioned blood pressure polygenic risk reveals differential genetic effects of tissue-specific enhancers and their interactions on cardiovascular disease.Research square · 2026Article
- Inherited Susceptibility to Urinary Tract Infections from Kidney Papilla to Bladder.medRxiv : the preprint server for health sciences · 2026Article
- Autosomal Type IV Collagen Genes Display Sex Differences in Genetic Risk for Hematuria.Kidney international reports · 2026Article
- Challenges in Bringing Pangenome Research Into Breeding: A Case Study in Rice.Plant biotechnology journal · 2026Review
- Multimodal predictions of end stage chronic kidney disease from asymptomatic individuals for discovery of genomic biomarkers.BMC nephrology · 2026Article
- Urobiota analysis and genome-wide association study in pediatric recurrent urinary tract infections and vesicoureteral reflux.JCI insight · 2026Article
- The proteogenomic landscape of the human kidney and implications for cardio-kidney-metabolic health.Nature medicine · 2025 · on this mapArticle
- Uncovering causal gene-tissue pairs and variants through a multivariate TWAS controlling for infinitesimal effects.Nature communications · 2025Article
- The Omics-Driven Machine Learning Path to Cost-Effective Precision Medicine in Chronic Kidney Disease.Proteomics · 2025Review
- Renal-Cardiac Crosstalk in the Pathogenesis and Progression of Heart Failure.Circulation research · 2025Review
- Distinct pathway-based effects of blood pressure and body mass index on cardiovascular traits: comparison of novel Mendelian randomization approaches.Genome medicine · 2025Article
- PPDPF preserves integrity of proximal tubule by modulating NMNAT activity in chronic kidney diseases.Science advances · 2025Article
- Association of Genetically Predicted Skipping of COL4A4 Exon 27 with Hematuria and Albuminuria.Journal of the American Society of Nephrology : JASN · 2025Article
- Uncovering causal gene-tissue pairs and variants: A multivariable TWAS method controlling for infinitesimal effects.Research square · 2024Article
Corrections and comments
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Authors and funding
16 authors at 3 institutions in 1 country.
Funding
Abstract
Expression quantitative trait locus (eQTL) studies illuminate genomic variants that regulate specific genes and contribute to fine-mapped loci discovered via genome-wide association studies (GWAS). Efforts to maximize their accuracy are ongoing. Using 240 glomerular (GLOM) and 311 tubulointerstitial (TUBE) micro-dissected samples from human kidney biopsies, we discovered 5371 GLOM and 9787 TUBE genes with at least one variant significantly associated with expression (eGene) by incorporating kidney single-nucleus open chromatin data and transcription start site distance as an "integrative prior" for Bayesian statistical fine-mapping. The use of an integrative prior resulted in higher resolution eQTLs illustrated by (1) smaller numbers of variants in credible sets with greater confidence, (2) increased enrichment of partitioned heritability for GWAS of two kidney traits, (3) an increased number of variants colocalized with the GWAS loci, and (4) enrichment of computationally predicted functional regulatory variants. A subset of variants and genes were validated experimentally in vitro and using a Drosophila nephrocyte model. More broadly, this study demonstrates that tissue-specific eQTL maps informed by single-nucleus open chromatin data have enhanced utility for diverse downstream analyses.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.